Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the vertebral column (HP:0000925)help
Parent Node:
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Abnormal ilium morphology (HP:0002867)help
Parent Node:
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Abnormal joint morphology (HP:0001367)help
Parent Node:
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Abnormal sacrum morphology (HP:0005107)help
..Starting node
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Abnormal sacroiliac joint morphology (HP:0100781)help
Term ID: 100781
Name: Abnormal sacroiliac joint morphology
Synonym: Abnormality of the sacroiliac joint
Definition: An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).
Comments:
Reference: HP:0100781
Genes and Diseases:
 
       Child Nodes:
........expandSacroiliac arthritis (HP:0012317) help
........expandSacroiliac joint synovitis (HP:0012449) help
........expandAbnormality of the sacroiliac notch (HP:0030266) help
................... HP:0003185 Short sacroiliac notch
................... HP:0008798 Widened sacrosciatic notch
................... HP:0008803 Narrow sacroiliac notch

 Sister Nodes: 
..expandAbnormal ossification of the sacrum (HP:0025370) help
..expandAplasia/Hypoplasia of the sacrum (HP:0008517) help
..expandDysplastic sacrum (HP:0008455) help
..expandHorizontal sacrum (HP:0003440) help
..expandSacral meningocele (HP:0005765) help
..expandSacral segmentation defect (HP:0008490) help
..expandSacrococcygeal pilonidal abnormality (HP:0010767) help
..expandSacrococcygeal teratoma (HP:0030736) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100781HP:0100781Abnormal sacroiliac joint morphology0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040282 - Frequent48
HP:0100781HP:0100781Abnormal sacroiliac joint morphology0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040282 - Frequent151
HP:0100781HP:0100781Abnormal sacroiliac joint morphology0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0100781HP:0100781Abnormal sacroiliac joint morphology0HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 14
HP:0100781HP:0100781Abnormal sacroiliac joint morphology0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemia217
HP:0100781HP:0100781Abnormal sacroiliac joint morphology0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0100781HP:0100781Abnormal sacroiliac joint morphology0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040281 - Very frequent7
HP:0100781HP:0012317Sacroiliac arthritis1HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 1.4
HP:0100781HP:0012449Sacroiliac joint synovitis1PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040283 - Occasional217


Genes (7) :DMP1 ENPP1 FGFR3 HLA-B PHEX TNFRSF1A TWIST2

Diseases (6) :ORPHA:289176 ORPHA:1860 OMIM:106300 ORPHA:89936 ORPHA:32960 ORPHA:1807
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.